Research output per year
Research output per year
Personal profile
Research interests
Rare Diseases, Dysmorphology, Genomic Medicine, Genetic Diagnostics of Rare Diseases and Syndromes with or without Intellectual Disability, Clinical Genetics, and Genetic Counselling.
External positions
Head of Department, Odense University Hospital
1. Mar 2010 → …
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Dive into the research topics where Lilian Bomme Ousager is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review
Chayed, Z., Kristensen, L. K., Ousager, L. B., Rønlund, K. & Bygum, A., 18. Jan 2021, In: Orphanet Journal of Rare Diseases. 16, 9 p., 34.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile10 Downloads (Pure) -
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Rots, D., Chater-Diehl, E., Dingemans, A. J. M., Goodman, S. J., Siu, M. T., Cytrynbaum, C., Choufani, S., Hoang, N., Walker, S., Awamleh, Z., Charkow, J., Meyn, S., Pfundt, R., Rinne, T., Gardeitchik, T., de Vries, B. B. A., Deden, A. C., Leenders, E., Kwint, M., Stumpel, C. T. R. M. & 67 others, , 3. Jun 2021, In: American Journal of Human Genetics. 108, 6, p. 1053-1068Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile6 Downloads (Pure) -
A novel homozygous SLURP1 variant in a boy with Mal de Meleda born to non-consanguineous parents
Gram, S. B., Blechingberg, J., Brusgaard, K., Bygum, A. & Ousager, L. B., 1. Dec 2020, In: European Journal of Human Genetics. 28, Suppl. 1, p. 840 1 p., E-P04.47.Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
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c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis
Kdissa, A., Brusgaard, K., Ksiaa, M., Golli, L., Hallara, O., Ousager, L. B., Manoubi, W., Seghaier, R. B., Adala, L., Halleb, Y., Saad, A., Hmila, F. & Gribaa, M., Jan 2020, In: Cancer genetics and cytogenetics. 240, p. 45-53Research output: Contribution to journal › Journal article › Research › peer-review
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Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia
Aagaard, K. S., Brusgaard, K., Miceikaite, I., Larsen, M. J., Kjeldsen, A. D., Lester, E. B., Ousager, L. B. & Tørring, P. M., Nov 2020, In: Molecular Genetics and Genomic Medicine. 8, 11, 8 p., e1498.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile25 Downloads (Pure)
Press / Media
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Lillian Bomme Ousager er udnævnt til professor
07/09/2020
1 Media contribution
Press/Media: Press / Media
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Lillian Bomme Ousager er udnævnt til professor
07/09/2020
1 Media contribution
Press/Media: Press / Media
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Prizes
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Ingeborg og Leo Dannins Legat for Videnskabelig Forskning
Ousager, Lilian Bomme (Recipient), 23. Mar 1999
Prize: Prizes, scholarships, distinctions
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Poster prize for best poster at the Danish Cancer Society research symposia.
Ousager, Lilian Bomme (Recipient), 1997
Prize: Prizes, scholarships, distinctions
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